rs6504618
This is a intron variant variant in the SPOP gene.
▶Research that mentions this SNP (1)
▶Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial gliomaAssociationN=2,175Yanhong Liu et al.(2012)· Human Genetics
This family-based association study identified genetic variants associated with familial glioma by analyzing 5,122 SNPs in four chromosomal regions in 88 glioma cases with family history versus 1,100 without (discovery study) and validated findings in 84 familial and 903 sporadic cases. The strongest associations in the combined analysis were at 12p13.33-12.1 (PRMT8 rs17780102 OR=2.13, SOX5 rs7305773 OR=3.53, STYK1 rs2418087 OR=1.88) and 17q12-21.32 (SPOP rs6504618 OR=2.01, p=0.0006), with significant dose-effect relationship across four risk variants.
About SPOP
This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
View all SPOP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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